Revel Score:
ENST00000311322
0.312
ENST00000538071
0.312
ENST00000535763
0.312
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01835039 (NFE)
Genomes Max Group AF
0.0177286 (NFE)
Exomes Max Group AF
0.01834233 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956018A>G , CM000670.2:g.19956018A>G | GRCh38 |
| NC_000008.10:g.19813529A>G , CM000670.1:g.19813529A>G | GRCh37 |
| NC_000008.9:g.19857809A>G | NCBI36 |
| NG_008855.1:g.21948A>G | |
| NG_008855.2:g.59302A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.953A>G MANE Select | ENSP00000497642.1:p.Asn318Ser | |
| ENST00000650478.1:c.14A>G | ENSP00000497560.1:p.Asn5Ser | |
| ENST00000311322.8:c.953A>G | ENSP00000309757.6:p.Asn318Ser | |
| NM_000237.2:c.953A>G | NP_000228.1:p.Asn318Ser | |
| NM_000237.3:c.953A>G MANE Select | NP_000228.1:p.Asn318Ser |